Incidental Mutation 'R8353:Itprid2'
ID |
645597 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Itprid2
|
Ensembl Gene |
ENSMUSG00000027007 |
Gene Name |
ITPR interacting domain containing 2 |
Synonyms |
Ssfa2, CS1, CS-1, SPAG13, KRAP |
MMRRC Submission |
067805-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.493)
|
Stock # |
R8353 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
79465696-79503310 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 79475129 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 363
(S363P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107415
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111784]
[ENSMUST00000111785]
[ENSMUST00000111788]
|
AlphaFold |
Q922B9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000111784
AA Change: S363P
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000107414 Gene: ENSMUSG00000027007 AA Change: S363P
Domain | Start | End | E-Value | Type |
low complexity region
|
35 |
57 |
N/A |
INTRINSIC |
KRAP_IP3R_bind
|
144 |
302 |
6.78e-81 |
SMART |
low complexity region
|
357 |
374 |
N/A |
INTRINSIC |
low complexity region
|
423 |
445 |
N/A |
INTRINSIC |
low complexity region
|
743 |
759 |
N/A |
INTRINSIC |
Pfam:SSFA2_C
|
858 |
1029 |
7.5e-88 |
PFAM |
low complexity region
|
1081 |
1095 |
N/A |
INTRINSIC |
low complexity region
|
1144 |
1156 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111785
AA Change: S363P
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000107415 Gene: ENSMUSG00000027007 AA Change: S363P
Domain | Start | End | E-Value | Type |
low complexity region
|
35 |
57 |
N/A |
INTRINSIC |
KRAP_IP3R_bind
|
144 |
302 |
6.78e-81 |
SMART |
low complexity region
|
357 |
374 |
N/A |
INTRINSIC |
low complexity region
|
423 |
445 |
N/A |
INTRINSIC |
low complexity region
|
743 |
759 |
N/A |
INTRINSIC |
Pfam:SSFA2_C
|
861 |
1029 |
8.9e-83 |
PFAM |
low complexity region
|
1103 |
1117 |
N/A |
INTRINSIC |
low complexity region
|
1166 |
1178 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111788
AA Change: S363P
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000107418 Gene: ENSMUSG00000027007 AA Change: S363P
Domain | Start | End | E-Value | Type |
low complexity region
|
35 |
57 |
N/A |
INTRINSIC |
KRAP_IP3R_bind
|
144 |
302 |
6.78e-81 |
SMART |
low complexity region
|
357 |
374 |
N/A |
INTRINSIC |
low complexity region
|
423 |
445 |
N/A |
INTRINSIC |
low complexity region
|
743 |
759 |
N/A |
INTRINSIC |
Pfam:SSFA2_C
|
858 |
1029 |
7.4e-88 |
PFAM |
low complexity region
|
1103 |
1117 |
N/A |
INTRINSIC |
low complexity region
|
1166 |
1178 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a null mutation display decreased body weight, resistance to diet induced obesity, increased food intake, decreased adipose tissue mass, elevated metabolic rate, abnormal glucose homeostasis, and abnormal hormone levels. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9630041A04Rik |
G |
T |
9: 101,815,884 (GRCm39) |
C23F |
possibly damaging |
Het |
Adam29 |
T |
C |
8: 56,326,196 (GRCm39) |
H86R |
possibly damaging |
Het |
Alas1 |
C |
T |
9: 106,113,721 (GRCm39) |
R508Q |
possibly damaging |
Het |
Albfm1 |
A |
T |
5: 90,714,360 (GRCm39) |
R123S |
possibly damaging |
Het |
Ark2n |
T |
C |
18: 77,761,604 (GRCm39) |
E236G |
probably damaging |
Het |
Bmp3 |
G |
A |
5: 99,003,282 (GRCm39) |
|
probably null |
Het |
Bud13 |
A |
G |
9: 46,199,499 (GRCm39) |
T287A |
probably benign |
Het |
C3 |
T |
C |
17: 57,519,643 (GRCm39) |
E1203G |
probably benign |
Het |
Carmil2 |
A |
C |
8: 106,416,843 (GRCm39) |
Q476P |
probably damaging |
Het |
Ccdc187 |
T |
A |
2: 26,166,458 (GRCm39) |
T707S |
probably damaging |
Het |
Cfap43 |
A |
T |
19: 47,735,086 (GRCm39) |
V1435E |
probably damaging |
Het |
Chrm3 |
A |
T |
13: 9,927,267 (GRCm39) |
*590K |
probably null |
Het |
Commd1 |
C |
T |
11: 22,928,503 (GRCm39) |
|
probably benign |
Het |
Creb3l1 |
A |
T |
2: 91,821,274 (GRCm39) |
Y314* |
probably null |
Het |
Ctc1 |
T |
A |
11: 68,913,275 (GRCm39) |
S90R |
probably benign |
Het |
Dixdc1 |
T |
C |
9: 50,596,186 (GRCm39) |
Q413R |
probably benign |
Het |
Dlg5 |
T |
C |
14: 24,208,213 (GRCm39) |
T998A |
probably benign |
Het |
Dnai4 |
A |
G |
4: 102,917,113 (GRCm39) |
I577T |
possibly damaging |
Het |
Eif1ad14 |
C |
T |
12: 87,886,323 (GRCm39) |
S102N |
probably benign |
Het |
Fam89b |
A |
G |
19: 5,778,903 (GRCm39) |
S99P |
possibly damaging |
Het |
Fbxo30 |
A |
G |
10: 11,166,479 (GRCm39) |
I400M |
probably benign |
Het |
Gad1 |
A |
T |
2: 70,431,057 (GRCm39) |
M567L |
probably benign |
Het |
Gemin5 |
T |
C |
11: 58,016,065 (GRCm39) |
S1314G |
probably benign |
Het |
Gm9195 |
T |
G |
14: 72,678,201 (GRCm39) |
I2323L |
probably benign |
Het |
Gria1 |
T |
A |
11: 57,133,877 (GRCm39) |
F585L |
probably damaging |
Het |
Hbs1l |
A |
T |
10: 21,185,178 (GRCm39) |
H200L |
probably benign |
Het |
Igsf5 |
A |
G |
16: 96,222,996 (GRCm39) |
Q360R |
probably benign |
Het |
Il31ra |
A |
T |
13: 112,660,717 (GRCm39) |
V624E |
probably damaging |
Het |
Iqsec3 |
T |
C |
6: 121,364,779 (GRCm39) |
R837G |
probably damaging |
Het |
Lpl |
A |
G |
8: 69,348,433 (GRCm39) |
I221V |
probably damaging |
Het |
Mink1 |
T |
A |
11: 70,501,154 (GRCm39) |
D887E |
possibly damaging |
Het |
Mmp10 |
T |
G |
9: 7,508,203 (GRCm39) |
F443C |
probably damaging |
Het |
Mmrn1 |
T |
A |
6: 60,965,361 (GRCm39) |
Y1131N |
probably damaging |
Het |
Mrc2 |
T |
A |
11: 105,223,137 (GRCm39) |
V460E |
probably damaging |
Het |
Nicn1 |
T |
A |
9: 108,170,572 (GRCm39) |
F57Y |
probably damaging |
Het |
Nlrp4b |
A |
G |
7: 10,449,528 (GRCm39) |
Y577C |
probably damaging |
Het |
Nrap |
T |
C |
19: 56,312,352 (GRCm39) |
T1535A |
probably damaging |
Het |
Opa1 |
G |
A |
16: 29,439,686 (GRCm39) |
R755H |
probably damaging |
Het |
Phldb2 |
A |
G |
16: 45,645,385 (GRCm39) |
S354P |
probably benign |
Het |
Phykpl |
T |
C |
11: 51,489,121 (GRCm39) |
S316P |
probably damaging |
Het |
Pnpla1 |
T |
A |
17: 29,077,873 (GRCm39) |
D11E |
probably benign |
Het |
Pold2 |
A |
G |
11: 5,825,104 (GRCm39) |
F98L |
probably damaging |
Het |
Prph |
G |
A |
15: 98,954,657 (GRCm39) |
R241Q |
probably benign |
Het |
Rcl1 |
T |
C |
19: 29,093,159 (GRCm39) |
I58T |
possibly damaging |
Het |
Rps6ka2 |
A |
G |
17: 7,514,151 (GRCm39) |
N117D |
probably benign |
Het |
Sars1 |
G |
A |
3: 108,336,029 (GRCm39) |
S331L |
probably benign |
Het |
Scfd1 |
A |
C |
12: 51,459,374 (GRCm39) |
K312Q |
possibly damaging |
Het |
Senp5 |
A |
G |
16: 31,808,166 (GRCm39) |
C363R |
probably benign |
Het |
Senp7 |
A |
G |
16: 56,008,691 (GRCm39) |
I1024V |
probably damaging |
Het |
Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,066,742 (GRCm39) |
|
probably benign |
Het |
Sptbn4 |
A |
G |
7: 27,103,663 (GRCm39) |
L1191P |
probably damaging |
Het |
Stk40 |
A |
G |
4: 126,022,766 (GRCm39) |
E180G |
probably damaging |
Het |
Stxbp5 |
A |
T |
10: 9,684,792 (GRCm39) |
V536E |
probably benign |
Het |
Tex15 |
G |
T |
8: 34,066,899 (GRCm39) |
E2110* |
probably null |
Het |
Thbs4 |
G |
A |
13: 92,927,325 (GRCm39) |
P55S |
probably benign |
Het |
Tmem115 |
T |
C |
9: 107,411,997 (GRCm39) |
V107A |
probably benign |
Het |
Tnfaip6 |
A |
C |
2: 51,945,879 (GRCm39) |
I242L |
probably benign |
Het |
Trabd |
G |
T |
15: 88,969,616 (GRCm39) |
A270S |
possibly damaging |
Het |
Trim30d |
T |
A |
7: 104,136,947 (GRCm39) |
I86F |
probably damaging |
Het |
Trpc7 |
A |
G |
13: 56,970,372 (GRCm39) |
V404A |
probably benign |
Het |
Vmn1r61 |
A |
G |
7: 5,613,886 (GRCm39) |
Y143H |
probably benign |
Het |
Vmn2r18 |
T |
A |
5: 151,485,373 (GRCm39) |
D707V |
probably damaging |
Het |
Vnn3 |
G |
A |
10: 23,745,443 (GRCm39) |
R464H |
probably benign |
Het |
Wdr27 |
T |
C |
17: 15,112,751 (GRCm39) |
T652A |
probably benign |
Het |
Yeats2 |
C |
T |
16: 20,041,637 (GRCm39) |
R1176* |
probably null |
Het |
|
Other mutations in Itprid2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00785:Itprid2
|
APN |
2 |
79,487,612 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL00792:Itprid2
|
APN |
2 |
79,487,807 (GRCm39) |
missense |
probably benign |
0.01 |
IGL00900:Itprid2
|
APN |
2 |
79,490,822 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00902:Itprid2
|
APN |
2 |
79,490,822 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01682:Itprid2
|
APN |
2 |
79,465,981 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01683:Itprid2
|
APN |
2 |
79,501,069 (GRCm39) |
intron |
probably benign |
|
IGL01832:Itprid2
|
APN |
2 |
79,481,762 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02253:Itprid2
|
APN |
2 |
79,490,788 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02342:Itprid2
|
APN |
2 |
79,490,629 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02420:Itprid2
|
APN |
2 |
79,465,986 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02445:Itprid2
|
APN |
2 |
79,487,842 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02649:Itprid2
|
APN |
2 |
79,472,303 (GRCm39) |
splice site |
probably benign |
|
IGL03242:Itprid2
|
APN |
2 |
79,473,815 (GRCm39) |
nonsense |
probably null |
|
IGL03266:Itprid2
|
APN |
2 |
79,472,534 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03342:Itprid2
|
APN |
2 |
79,490,796 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03352:Itprid2
|
APN |
2 |
79,475,445 (GRCm39) |
missense |
probably damaging |
1.00 |
R0255:Itprid2
|
UTSW |
2 |
79,490,810 (GRCm39) |
missense |
probably damaging |
1.00 |
R0526:Itprid2
|
UTSW |
2 |
79,487,690 (GRCm39) |
missense |
probably benign |
0.01 |
R0543:Itprid2
|
UTSW |
2 |
79,474,850 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1114:Itprid2
|
UTSW |
2 |
79,487,873 (GRCm39) |
missense |
probably damaging |
1.00 |
R1701:Itprid2
|
UTSW |
2 |
79,466,394 (GRCm39) |
missense |
probably damaging |
1.00 |
R1734:Itprid2
|
UTSW |
2 |
79,488,166 (GRCm39) |
missense |
probably damaging |
1.00 |
R1945:Itprid2
|
UTSW |
2 |
79,492,996 (GRCm39) |
missense |
probably benign |
0.03 |
R2188:Itprid2
|
UTSW |
2 |
79,475,267 (GRCm39) |
missense |
probably benign |
0.01 |
R2941:Itprid2
|
UTSW |
2 |
79,466,000 (GRCm39) |
missense |
probably benign |
0.19 |
R4087:Itprid2
|
UTSW |
2 |
79,488,691 (GRCm39) |
nonsense |
probably null |
|
R4107:Itprid2
|
UTSW |
2 |
79,475,175 (GRCm39) |
missense |
probably damaging |
0.97 |
R4355:Itprid2
|
UTSW |
2 |
79,472,342 (GRCm39) |
missense |
probably benign |
0.02 |
R4497:Itprid2
|
UTSW |
2 |
79,488,164 (GRCm39) |
missense |
probably damaging |
1.00 |
R4615:Itprid2
|
UTSW |
2 |
79,492,726 (GRCm39) |
missense |
probably damaging |
0.99 |
R4726:Itprid2
|
UTSW |
2 |
79,493,101 (GRCm39) |
missense |
probably damaging |
1.00 |
R5818:Itprid2
|
UTSW |
2 |
79,474,937 (GRCm39) |
missense |
probably damaging |
1.00 |
R5889:Itprid2
|
UTSW |
2 |
79,488,072 (GRCm39) |
missense |
probably damaging |
1.00 |
R6169:Itprid2
|
UTSW |
2 |
79,475,406 (GRCm39) |
missense |
probably damaging |
0.99 |
R6337:Itprid2
|
UTSW |
2 |
79,485,463 (GRCm39) |
missense |
probably damaging |
1.00 |
R6677:Itprid2
|
UTSW |
2 |
79,485,445 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6709:Itprid2
|
UTSW |
2 |
79,475,276 (GRCm39) |
missense |
probably benign |
0.00 |
R6855:Itprid2
|
UTSW |
2 |
79,488,049 (GRCm39) |
missense |
probably damaging |
1.00 |
R6856:Itprid2
|
UTSW |
2 |
79,488,049 (GRCm39) |
missense |
probably damaging |
1.00 |
R7075:Itprid2
|
UTSW |
2 |
79,466,004 (GRCm39) |
missense |
probably damaging |
0.99 |
R7319:Itprid2
|
UTSW |
2 |
79,466,416 (GRCm39) |
missense |
probably damaging |
1.00 |
R7414:Itprid2
|
UTSW |
2 |
79,475,072 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7590:Itprid2
|
UTSW |
2 |
79,488,454 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7722:Itprid2
|
UTSW |
2 |
79,492,689 (GRCm39) |
missense |
probably damaging |
1.00 |
R7923:Itprid2
|
UTSW |
2 |
79,492,959 (GRCm39) |
nonsense |
probably null |
|
R8155:Itprid2
|
UTSW |
2 |
79,475,177 (GRCm39) |
missense |
probably benign |
0.01 |
R8175:Itprid2
|
UTSW |
2 |
79,488,496 (GRCm39) |
missense |
probably damaging |
1.00 |
R8237:Itprid2
|
UTSW |
2 |
79,487,614 (GRCm39) |
missense |
probably benign |
0.01 |
R8341:Itprid2
|
UTSW |
2 |
79,488,062 (GRCm39) |
missense |
probably damaging |
1.00 |
R8364:Itprid2
|
UTSW |
2 |
79,481,787 (GRCm39) |
missense |
probably damaging |
0.99 |
R8365:Itprid2
|
UTSW |
2 |
79,492,689 (GRCm39) |
missense |
probably damaging |
1.00 |
R8453:Itprid2
|
UTSW |
2 |
79,475,129 (GRCm39) |
missense |
probably benign |
0.01 |
R8507:Itprid2
|
UTSW |
2 |
79,475,208 (GRCm39) |
missense |
probably benign |
|
R8874:Itprid2
|
UTSW |
2 |
79,487,684 (GRCm39) |
missense |
probably benign |
|
R8953:Itprid2
|
UTSW |
2 |
79,490,839 (GRCm39) |
missense |
probably damaging |
1.00 |
R8978:Itprid2
|
UTSW |
2 |
79,491,257 (GRCm39) |
missense |
probably damaging |
1.00 |
R9033:Itprid2
|
UTSW |
2 |
79,465,938 (GRCm39) |
missense |
probably damaging |
0.97 |
R9067:Itprid2
|
UTSW |
2 |
79,475,180 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGCAAACCGTCTGATGAAAAC -3'
(R):5'- TGGGCACTTTTCAGCTCACTG -3'
Sequencing Primer
(F):5'- GCAAACCGTCTGATGAAAACACTATC -3'
(R):5'- GACACGCGGCCATCATGAC -3'
|
Posted On |
2020-09-02 |